Figure 2.
In silico functional study on the regulatory potential of the deletion at 6p22.1. Schematic representation of the locus containing the deletion region associated with asthma in Brazilian populations (expanded view: 6:29,801,381–30,018,756; RefSeq: GRCh38). This region was cross-referenced with DNA sequence annotations, including: location of protein coding or non-protein coding genes (GENCODE 26); presence of large structural variations identified by the 1000 genomes project, phase 3 (SV – 1KG 3); position of putative regulatory elements (regulatory build); location of constrained elements for 40 eutherian mammals (GERP, Genomic Evolutionary Rate Profiling); presence of SNPs and short indels associated with any human phenotype in previous studies. Limits of the deletions found in samples from Salvador or Pelotas are symbolized by a yellow or a green bar, respectively. Image created using the Ensembl genome browser (http://www.ensembl.org).